Sugi Variant

Sugi Variant/CFI

CFI — 746 ClinVar variants

All ClinVar germline CFI variants across every classification, each assembled from ClinVar, gnomAD, AlphaMissense, conservation and more. 394 flagged for review →

30 Pathogenic · 9 Pathogenic/Likely pathogenic · 37 Likely pathogenic · 67 Conflicting · 44 Benign · 17 Benign/Likely benign · 175 Likely benign · 367 Uncertain significance

Full CFI gene report on Sugi Atlas → Gene function, pathways, protein structure, constraint & interactions

⚑ Evidence disagreements 394

Variants where the independent computational evidence doesn't line up with the clinical picture — a QC signal for a second look, not a reclassification.

Predictors vs ClinVar 6

ClinVar calls these pathogenic, but the computational predictors lean tolerated — the highest-value review flag.

Predictors agree, ClinVar conflicts 37

ClinVar submitters conflict, but the independent predictors unanimously agree — a QC review flag, not a reclassification.

Predictors lean, ClinVar uncertain 223

ClinVar classifies these uncertain (VUS), but the independent predictors unanimously lean one way — a triage signal for review, not a reclassification. · showing the 150 best-reviewed of 223

Predictors split 128

The independent predictors disagree with each other — read with care.

All CFI variants

Pathogenic 30

Pathogenic/Likely pathogenic 9

  • c.1429+1G>C Multiple submitters CFI-related disorder
  • p.Ala258Thr Multiple submitters complement factor I deficiency ⚠
  • p.Arg187Ter Multiple submitters atypical hemolytic-uremic syndrome with I factor anomaly
  • p.Arg474Ter Multiple submitters complement factor I deficiency
  • p.Asn549fs Multiple submitters CFI-related disorder
  • p.Glu434fs Multiple submitters CFI-related disorder
  • p.His380Arg Multiple submitters Primary immunodeficiency or monogenic inflammatory bowel disease
  • p.Leu484fs Multiple submitters CFI-related disorder
  • p.Met138fs Multiple submitters age related macular degeneration 13

Likely pathogenic 37

  • c.57+1G>C Multiple submitters atypical hemolytic-uremic syndrome with I factor anomaly
  • c.658+1G>A Multiple submitters complement factor I deficiency
  • c.905-1G>C Multiple submitters atypical hemolytic-uremic syndrome with I factor anomaly
  • c.1148+1G>T Single submitter atypical hemolytic-uremic syndrome with I factor anomaly
  • c.328+1G>A Single submitter
  • c.329-2A>G Single submitter
  • c.57+1G>A Single submitter atypical hemolytic-uremic syndrome with I factor anomaly
  • c.763_772+9delinsGTCTCCAC Single submitter
  • c.772+1G>T Single submitter atypical hemolytic-uremic syndrome with I factor anomaly
  • c.773-1G>A Single submitter atypical hemolytic-uremic syndrome with I factor anomaly
  • c.883+1G>C Single submitter
  • c.883+2T>A Single submitter
  • p.Asp164Val Single submitter CFI-related disorder ⚠
  • p.Asp443fs Single submitter atypical hemolytic-uremic syndrome with I factor anomaly
  • p.Cys229Arg Single submitter atypical hemolytic-uremic syndrome
  • p.Cys266Arg Single submitter atypical hemolytic-uremic syndrome with I factor anomaly
  • p.Cys327Arg Single submitter CFI-related disorder
  • p.Cys33_Lys37del Single submitter atypical hemolytic-uremic syndrome
  • p.Cys550fs Single submitter
  • p.Gln250Ter Single submitter atypical hemolytic-uremic syndrome with I factor anomaly
  • p.Gln462Ter Single submitter
  • p.Gly328Arg Single submitter CFI-related disorder
  • p.Gly71Val Single submitter complement factor I deficiency ⚠
  • p.Ile370Asn Single submitter atypical hemolytic-uremic syndrome
  • p.Ile375fs Single submitter atypical hemolytic-uremic syndrome with I factor anomaly
  • p.Ile433Val Single submitter CFI-related disorder ⚠
  • p.Lys522Thr Single submitter CFI-related disorder
  • p.Pro402Ser Single submitter CFI-related disorder ⚠
  • p.Ser496Phe Single submitter atypical hemolytic-uremic syndrome with I factor anomaly ⚠
  • p.Ser90Asn Single submitter CFI-related disorder
  • p.Trp456Leu Single submitter CFI-related disorder ⚠
  • p.Trp486Ter Single submitter CFI-related disorder
  • p.Trp546Ter Single submitter atypical hemolytic-uremic syndrome with I factor anomaly
  • p.Tyr390Ter Single submitter atypical hemolytic-uremic syndrome with I factor anomaly
  • p.Val230Glu Single submitter CFI-related disorder ⚠
  • p.Val544Met Single submitter age related macular degeneration 13
  • p.Cys373Ser No assertion criteria atypical hemolytic-uremic syndrome with I factor anomaly

Conflicting classifications of pathogenicity 67

Benign 44

Benign/Likely benign 17

  • c.1044+8C>T Multiple submitters atypical hemolytic-uremic syndrome with I factor anomaly
  • c.1429+8T>C Multiple submitters atypical hemolytic-uremic syndrome with I factor anomaly
  • c.1534+5G>T Multiple submitters CFI-related disorder
  • c.329-14dup Multiple submitters age related macular degeneration 13
  • c.329-8del Multiple submitters atypical hemolytic-uremic syndrome
  • c.482+6C>A Multiple submitters atypical hemolytic-uremic syndrome with I factor anomaly
  • c.*7G>T Multiple submitters atypical hemolytic-uremic syndrome with I factor anomaly
  • p.Arg201Ser Multiple submitters complement factor I deficiency
  • p.Asp135= Multiple submitters atypical hemolytic-uremic syndrome with I factor anomaly
  • p.Gly261Asp Multiple submitters age related macular degeneration 13
  • p.Gly527= Multiple submitters age related macular degeneration 13
  • p.His183Arg Multiple submitters CFI-related disorder
  • p.Ile306Val Multiple submitters CFI-related disorder
  • p.Pro402= Multiple submitters age related macular degeneration 13
  • p.Pro553Ser Multiple submitters CFI-related disorder
  • p.Thr107Ala Multiple submitters complement factor I deficiency
  • p.Val481= Multiple submitters age related macular degeneration 13

Likely benign 175

Uncertain significance 367

Showing the top 300 by review status; the full set is in the sitemap.